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GENATLAS PHENOTYPE

last update : 06-11-2012

Symbol	SGS
Location	15q21.1
Name	Shprintzen-Goldberg syndrome of marfanoid habitus craniosynostosis
Other name(s)	craniosynostosis with arachnodactyly and abdominal hernias Marfanoid disorder with craniosynostosis, type I
Corresponding gene	FBN1
Main clinical features	with severe exophthalmos, maxillary and mandibular hypoplasia, soft tissue hypertrophy of the palatal shelves, low-set ears with soft and pliable auricles, multiple abdominal hernias, arachnodactyly, and camptodactyly, infantile hypotonia, developmental delay, mental retardation, and obstructive apnea
Genetic determination	autosomal dominant
Function/system disorder	congenital malformation
	mental retardation
Type	disease

Gene product

Name	fibrillin 1 (FBN1)

Remark(s)